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GCTGATGCAGGAAGGCATGCCGATG[C/T]GCAAGGTGAGGTCCAAAAGCTGGAA
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 605939 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
PLCD4 PubMed Links | ||||||||||||||||||||||||||||||||||||||
Allele Nomenclature: |
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Minor Allele Frequency: |
1000Genome | Applied Biosystems® | HapMap | |||
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Global
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Caucasian - Not Available | CEPH (CEU) - Not Available | |||
EAS
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African American - Not Available | YRI (Yoruba) - Not Available | |||
SAS
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Chinese - Not Available | CHB (Han Chinese) - Not Available | |||
AFR
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Japanese - Not Available | JPT (Japanese) - Not Available | |||
EUR
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AMR
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PLCD4 - phospholipase C delta 4 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_032726.3 | 412 | Missense Mutation | CGC,TGC | R,C 25 | NP_116115.1 | |
XM_005246913.2 | 412 | Missense Mutation | CGC,TGC | R,C 25 | XP_005246970.1 | |
XM_011512012.1 | 412 | Missense Mutation | CGC,TGC | R,C 25 | XP_011510314.1 | |
XM_017005114.1 | 412 | Missense Mutation | CGC,TGC | R,C 25 | XP_016860603.1 | |
XM_017005115.1 | 412 | Missense Mutation | CGC,TGC | R,C 25 | XP_016860604.1 | |
XM_017005116.1 | 412 | Missense Mutation | CGC,TGC | R,C 25 | XP_016860605.1 | |
XM_017005117.1 | 412 | Missense Mutation | CGC,TGC | R,C 25 | XP_016860606.1 | |
XM_017005118.1 | 412 | UTR 5 | XP_016860607.1 | |||
XM_017005119.1 | 412 | Intron | XP_016860608.1 | |||
XM_017005120.1 | 412 | Intron | XP_016860609.1 |